Kufs disease is the rare, adult-onset form of the neuronal ceroid-lipofuscinoses, characterized by early-onset dementia, progressive myoclonic epilepsy, gait disturbances, cerebellar and extrapyramidal symptoms, due to intraneuronal/extraneuronal accumulation of lipopigments (ceroid and lipofuscin-like). We describe the clinical evolution of an atypical case clinically characterized by slow progressive dementia and occipital recurrent status epilepticus.
Adult neuronal ceroid lipofuscinoses (Kufs disease): An atypical case with recurrent occipital status epilepticus | [Ceroido-lipofuscinosi dell'adulto (malattia di Kufs): Un caso atipico con stati di male occipitali ricorrenti] / Pugnaghi, Matteo; A., Zini; Monti, Giulia; A., Ariatti; A., Todeschini; Nichelli, Paolo Frigio; G., Cenacchi; Meletti, Stefano. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - 136-137:136-137(2008), pp. 47-49.
Adult neuronal ceroid lipofuscinoses (Kufs disease): An atypical case with recurrent occipital status epilepticus | [Ceroido-lipofuscinosi dell'adulto (malattia di Kufs): Un caso atipico con stati di male occipitali ricorrenti]
MONTI, Giulia;MELETTI, Stefano
2008-01-01
Abstract
Kufs disease is the rare, adult-onset form of the neuronal ceroid-lipofuscinoses, characterized by early-onset dementia, progressive myoclonic epilepsy, gait disturbances, cerebellar and extrapyramidal symptoms, due to intraneuronal/extraneuronal accumulation of lipopigments (ceroid and lipofuscin-like). We describe the clinical evolution of an atypical case clinically characterized by slow progressive dementia and occipital recurrent status epilepticus.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
